Publications
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 ;98(6):1051-66.
. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 ;97(2):199-215.
. Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet. 2013 ;92(4):621-6.
.